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Mutation screen in the GWAS derived obesity gene SH2B1 including functional analyses of detected variants.

Oct 27, 2014 10/14

by Volckmar, Anna-Lena; Bolze, Florian; Jarick, Ivonne; Knoll, Nadja; Scherag, Andre; Reinehr, Thomas; Illig, Thomas; Grallert, Harald; Wichmann, Heinz-Erich; Wiegand, Susanna; Biebermann, Heike; Krude, Heiko; Fischer-Posovszky, Pamela; Rief, Winfried; Wabitsch, Martin; Klingenspor, Martin; Hebebrand, Johannes; Hinney, Anke

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This article is from BMC Medical Genomics , volume 5 . Abstract Background: The SH2B1 gene (Src-homology 2B adaptor protein 1 gene) is a solid candidate gene for obesity. Large scale GWAS studies depicted markers in the vicinity of the gene; animal models suggest a potential relevance for human body weight regulation. Methods: We performed a mutation screen for variants in the SH2B1 coding sequence in 95 extremely obese children and adolescents. Detected variants were genotyped in independent...
Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3544595

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Mitochondrial DNA Variants in Obesity.

Oct 22, 2014 10/14

by Knoll, Nadja; Jarick, Ivonne; Volckmar, Anna-Lena; Klingenspor, Martin; Illig, Thomas; Grallert, Harald; Gieger, Christian; Wichmann, Heinz-Erich; Peters, Annette; Wiegand, Susanna; Biebermann, Heike; Fischer-Posovszky, Pamela; Wabitsch, Martin; Volzke, Henry; Nauck, Matthias; Teumer, Alexander; Rosskopf, Dieter; Rimmbach, Christian; Schreiber, Stefan; Jacobs, Gunnar; Lieb, Wolfgang; Franke, Andre; Hebebrand, Johannes; Hinney, Anke

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This article is from PLoS ONE , volume 9 . Abstract Heritability estimates for body mass index (BMI) variation are high. For mothers and their offspring higher BMI correlations have been described than for fathers. Variation(s) in the exclusively maternally inherited mitochondrial DNA (mtDNA) might contribute to this parental effect. Thirty-two to 40 mtDNA single nucleotide polymorphisms (SNPs) were available from genome-wide association study SNP arrays (Affymetrix 6.0). For discovery, we...
Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4008486

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